EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review

por Abbasi, Zahra, Jafari Khamirani, Hossein, Tabei, Seyed Mohammad Bagher, Manoochehri, Jamal, Dianatpour, Mehdi, Dastgheib, Seyed Alireza
Publicado 2023

Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1

por Alavi, Omid, Khamirani, Hossein Jafari, Zoghi, Sina, Feili, Afrooz, Dastgheib, Seyed Alireza, Tabei, Seyed Mohammad Bagher, Manoochehri, Jamal, Panahandeh, Seyed Mehdi, Kamali, Majid, Dianatpour, Mehdi
Publicado 2021

A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report

por Manoochehri, Jamal, Dastgheib, Seyed Alireza, Khamirani, Hossein Jafari, Mollaie, Maryam, Sharifi, Zahra, Zoghi, Sina, Tabei, Seyed Mohammad Bagher, Mohammadi, Sanaz, Dehghanian, Fatemeh, Farbod, Zahra, Dianatpour, Mehdi
Publicado 2021

Correction: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report

por Manoochehri, Jamal, Dastgheib, Seyed Alireza, Khamirani, Hossein Jafari, Mollaie, Maryam, Sharifi, Zahra, Zoghi, Sina, Tabei, Seyed Mohammad Bagher, Mohammadi, Sanaz, Dehghanian, Fatemeh, Farbod, Zahra, Dianatpour, Mehdi
Publicado 2021